Quantitative trait locus mapping using human pedigrees

John Blangero, Jeff T. Williams, Laura Almasy

    Research output: Contribution to journalArticlepeer-review

    68 Scopus citations


    In the past decade phenomenal progress has been made in molecular and statistical genetic methods for localizing quantitative trait loci. Because of these advances, we can anticipate a long period of active genetic research in which the genes influencing human quantitative variability will be mapped and their effects accurately evaluated. Here, we review the current state of the science in statistical genetic methods for quantitative trait linkage analysis. In particular, we detail a variance component-based framework for localizing quantitative trait loci and for accurately estimating their relative effect sizes. Attention is paid to the optimal design of human family studies for localizing genes of small to moderate effect. In addition, methods and strategies are described for dealing with the most important complications of quantitative variation, including the assessment of genotype x environment interaction and epistasis.

    Original languageEnglish (US)
    Pages (from-to)35-62
    Number of pages28
    JournalHuman Biology
    Issue number1
    StatePublished - 2000


    • Linkage analysis
    • Statistical genetics
    • Variance component

    ASJC Scopus subject areas

    • Ecology, Evolution, Behavior and Systematics
    • Genetics
    • Genetics(clinical)


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